Linked Data
dbSNP Id:
rs2295639
gnomAD v2:
14-64902116-T-C
gnomAD v3:
14-64435398-T-C
gnomAD v4:
14-64435398-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.64435398T>C , CM000676.2:g.64435398T>C | GRCh38 |
| NC_000014.8:g.64902116T>C , CM000676.1:g.64902116T>C | GRCh37 |
| NC_000014.7:g.63971869T>C | NCBI36 |
| NG_012450.1:g.52358T>C | |
| NG_012450.2:g.52358T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000555858.2:n.1644-171T>C | ||
| ENST00000557539.2:c.1252-171T>C | ENSP00000476468.2:n.1252-171T>C | |
| ENST00000697166.1:n.1644-171T>C | ||
| ENST00000697167.1:c.*179-171T>C | ENSP00000513155.1:n.*179-171T>C | |
| ENST00000697168.1:c.1495-171T>C | ENSP00000513156.1:n.1495-171T>C | |
| ENST00000697169.1:c.1495-171T>C | ENSP00000513157.1:n.1495-171T>C | |
| ENST00000697170.1:n.1643+3537T>C | ||
| ENST00000697171.1:c.1495-171T>C | ENSP00000513158.1:n.1495-171T>C | |
| ENST00000697173.1:c.1252-171T>C | ENSP00000513159.1:n.1252-171T>C | |
| ENST00000697174.1:c.1246-171T>C | ENSP00000513160.1:n.1246-171T>C | |
| ENST00000697175.1:c.*291-171T>C | ENSP00000513161.1:n.*291-171T>C | |
| ENST00000697176.1:c.1252-171T>C | ENSP00000513162.1:n.1252-171T>C | |
| ENST00000545908.6:c.1495-171T>C | ENSP00000438588.2:n.1495-171T>C | |
| ENST00000554768.6:c.1252-171T>C | ENSP00000477501.2:n.1252-171T>C | |
| ENST00000555709.7:c.*872-171T>C | ENSP00000450560.3:n.*872-171T>C | |
| ENST00000557370.3:c.1495-171T>C | ENSP00000477199.2:n.1495-171T>C | |
| ENST00000650853.1:n.1570-171T>C | ||
| ENST00000651537.1:c.1495-171T>C | ENSP00000498511.1:n.1495-171T>C | |
| ENST00000652179.1:c.1252-171T>C | ENSP00000498649.1:n.1252-171T>C | |
| ENST00000652337.1:c.1495-171T>C MANE Select | ENSP00000498336.1:n.1495-171T>C | |
| ENST00000652509.1:c.728-171T>C | ||
| ENST00000216605.12:c.1495-171T>C | ENSP00000216605.8:n.1495-171T>C | |
| ENST00000545908.5:c.1663-171T>C | ENSP00000438588.1:n.1663-171T>C | |
| ENST00000554677.1:n.35-171T>C | ||
| ENST00000555252.5:n.1552-171T>C | ||
| NM_005956.3:c.1495-171T>C | NP_005947.3:n.1495-171T>C | |
| NM_001364837.1:c.1495-171T>C | NP_001351766.1:n.1495-171T>C | |
| NM_005956.4:c.1495-171T>C MANE Select | NP_005947.3:n.1495-171T>C |