Linked Data
ClinVar Variation Id:
1269192
ClinVar RCV Id:
RCV001680825
dbSNP Id:
rs2032605
ExAC:
Y:14924869 C / T
gnomAD v2:
Y-14924869-C-T
gnomAD v3:
Y-12812934-C-T
gnomAD v4:
Y-12812934-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12812934C>T , CM000686.2:g.12812934C>T | GRCh38 |
| NC_000024.9:g.14924869C>T , CM000686.1:g.14924869C>T | GRCh37 |
| NC_000024.8:g.13434263C>T | NCBI36 |
| NG_008311.1:g.116710C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000651177.1:c.4491C>T | ENSP00000498372.1:p.Pro1497= | |
| ENST00000338981.7:c.4491C>T MANE Select | ENSP00000342812.3:p.Pro1497= | |
| ENST00000426564.6:n.4503C>T | ||
| NM_004654.3:c.4491C>T | NP_004645.2:p.Pro1497= | |
| XM_011531469.1:c.4491C>T | XP_011529771.1:p.Pro1497= | |
| XM_011531470.1:c.4257C>T | XP_011529772.1:p.Pro1419= | |
| XM_017030078.2:c.4506C>T | XP_016885567.1:p.Pro1502= | |
| NM_004654.4:c.4491C>T MANE Select | NP_004645.2:p.Pro1497= |