Linked Data
dbSNP Id:
rs749242770
ExAC:
1:171621112 T / G
gnomAD v2:
1-171621112-T-G
gnomAD v4:
1-171651972-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171651972T>G , CM000663.2:g.171651972T>G | GRCh38 |
| NC_000001.10:g.171621112T>G , CM000663.1:g.171621112T>G | GRCh37 |
| NC_000001.9:g.169887735T>G | NCBI36 |
| NG_008859.1:g.5662A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.604+36A>C MANE Select | ENSP00000037502.5:n.604+36A>C | |
| ENST00000638471.1:c.130+510A>C | ENSP00000491206.1:n.130+510A>C | |
| ENST00000037502.10:c.604+36A>C | ENSP00000037502.5:n.604+36A>C | |
| ENST00000614688.1:c.604+36A>C | ENSP00000478680.1:n.604+36A>C | |
| NM_000261.1:c.604+36A>C | NP_000252.1:n.604+36A>C | |
| NM_000261.2:c.604+36A>C MANE Select | NP_000252.1:n.604+36A>C |