Linked Data
dbSNP Id:
rs747616827
ExAC:
12:102155396 G / A
gnomAD v2:
12-102155396-G-A
gnomAD v4:
12-101761618-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101761618G>A , CM000674.2:g.101761618G>A | GRCh38 |
| NC_000012.11:g.102155396G>A , CM000674.1:g.102155396G>A | GRCh37 |
| NC_000012.10:g.100679527G>A | NCBI36 |
| NG_021243.1:g.74250C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.2861C>T MANE Select | ENSP00000299314.7:p.Pro954Leu | |
| ENST00000299314.11:c.2861C>T | ENSP00000299314.7:p.Pro954Leu | |
| NM_024312.4:c.2861C>T | NP_077288.2:p.Pro954Leu | |
| XM_006719593.2:c.2861C>T | XP_006719656.1:p.Pro954Leu | |
| XM_011538731.1:c.2780C>T | XP_011537033.1:p.Pro927Leu | |
| XM_006719593.3:c.2861C>T | XP_006719656.1:p.Pro954Leu | |
| XM_011538731.2:c.2780C>T | XP_011537033.1:p.Pro927Leu | |
| XM_017019961.1:c.2645C>T | XP_016875450.1:p.Pro882Leu | |
| XM_017019962.2:c.1634C>T | XP_016875451.1:p.Pro545Leu | |
| NM_024312.5:c.2861C>T MANE Select | NP_077288.2:p.Pro954Leu |