Linked Data
dbSNP Id:
rs2770146
gnomAD v2:
9-120473338-T-C
gnomAD v3:
9-117711060-T-C
gnomAD v4:
9-117711060-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.117711060T>C , CM000671.2:g.117711060T>C | GRCh38 |
| NC_000009.11:g.120473338T>C , CM000671.1:g.120473338T>C | GRCh37 |
| NC_000009.10:g.119513159T>C | NCBI36 |
| NG_011475.1:g.11879T>C | |
| NG_011475.2:g.11658T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000646089.2:c.93+6495T>C | ENSP00000496197.1:n.93+6495T>C | |
| ENST00000697624.1:n.200+6495T>C | ||
| ENST00000697625.1:c.93+6495T>C | ENSP00000513362.1:n.93+6495T>C | |
| ENST00000697636.1:c.93+6495T>C | ENSP00000513366.1:n.93+6495T>C | |
| ENST00000697637.1:c.93+6495T>C | ENSP00000513367.1:n.93+6495T>C | |
| ENST00000697664.1:c.140+2331T>C | ENSP00000513389.1:n.140+2331T>C | |
| ENST00000697665.1:c.93+6495T>C | ENSP00000513390.1:n.93+6495T>C | |
| ENST00000697666.1:c.140+2331T>C | ENSP00000513391.1:n.140+2331T>C | |
| ENST00000355622.8:c.261-1329T>C MANE Select | ENSP00000363089.5:n.261-1329T>C | |
| ENST00000394487.5:c.141-1329T>C | ENSP00000377997.4:n.141-1329T>C | |
| ENST00000472304.2:c.94-1329T>C | ENSP00000496429.1:n.94-1329T>C | |
| ENST00000642985.1:c.260+2331T>C | ENSP00000493686.1:n.260+2331T>C | |
| ENST00000646089.1:c.93+6495T>C | ENSP00000496197.1:n.93+6495T>C | |
| ENST00000665764.1:c.93+6495T>C | ENSP00000499745.1:n.93+6495T>C | |
| ENST00000355622.6:c.261-1329T>C | ENSP00000363089.5:n.261-1329T>C | |
| ENST00000394487.4:c.141-1329T>C | ENSP00000377997.4:n.141-1329T>C | |
| ENST00000472304.1:n.178-1329T>C | ||
| NM_003266.3:c.141-1329T>C | NP_003257.1:n.141-1329T>C | |
| NM_138554.4:c.261-1329T>C | NP_612564.1:n.261-1329T>C | |
| NM_138557.2:c.-340-1329T>C | NP_612567.1:n.-340-1329T>C | |
| NM_138554.5:c.261-1329T>C MANE Select | NP_612564.1:n.261-1329T>C | |
| NM_003266.4:c.141-1329T>C | NP_003257.1:n.141-1329T>C | |
| NM_138557.3:c.-340-1329T>C | NP_612567.1:n.-340-1329T>C |