HGVS | Genome Assembly |
---|---|
NC_000007.14:g.107710280G>C , CM000669.2:g.107710280G>C | GRCh38 |
NC_000007.13:g.107350725G>C , CM000669.1:g.107350725G>C | GRCh37 |
NC_000007.12:g.107137961G>C | NCBI36 |
NG_008489.1:g.54646G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000644269.2:c.2235+81G>C MANE Select | ENSP00000494017.1:n.2235+81G>C | |
ENST00000644846.1:c.891+81G>C | ||
ENST00000265715.7:c.2235+81G>C | ENSP00000265715.3:n.2235+81G>C | |
ENST00000492030.2:n.421+81G>C | ||
NM_000441.1:c.2235+81G>C | NP_000432.1:n.2235+81G>C | |
XM_005250425.1:c.2235+81G>C | XP_005250482.1:n.2235+81G>C | |
XM_005250425.2:c.2235+81G>C | XP_005250482.1:n.2235+81G>C | |
XM_017012318.1:c.2157+81G>C | XP_016867807.1:n.2157+81G>C | |
NM_000441.2:c.2235+81G>C MANE Select | NP_000432.1:n.2235+81G>C |