Linked Data
ClinVar Variation Id:
2817321
ClinVar RCV Id:
RCV003711213
dbSNP Id:
rs1158654168
gnomAD v2:
6-33132698-G-A
gnomAD v3:
6-33164921-G-A
gnomAD v4:
6-33164921-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33164921G>A , CM000668.2:g.33164921G>A | GRCh38 |
| NC_000006.11:g.33132698G>A , CM000668.1:g.33132698G>A | GRCh37 |
| NC_000006.10:g.33240676G>A | NCBI36 |
| NG_011589.1:g.32548C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683572.1:n.600C>T | ||
| ENST00000341947.7:c.4794C>T MANE Select | ENSP00000339915.2:p.Ala1598= | |
| ENST00000341947.6:c.4794C>T | ENSP00000339915.2:p.Ala1598= | |
| ENST00000361917.5:c.4473C>T | ENSP00000355123.1:p.Ala1491= | |
| ENST00000374708.8:c.4536C>T | ENSP00000363840.4:p.Ala1512= | |
| ENST00000477772.1:n.584C>T | ||
| NM_080679.2:c.4473C>T | NP_542410.2:p.Ala1491= | |
| NM_080680.2:c.4794C>T | NP_542411.2:p.Ala1598= | |
| NM_080681.2:c.4536C>T | NP_542412.2:p.Ala1512= | |
| XM_011514298.1:c.3948C>T | XP_011512600.1:p.Ala1316= | |
| XM_011514299.1:c.4080C>T | XP_011512601.1:p.Ala1360= | |
| XM_011514300.1:c.3900C>T | XP_011512602.1:p.Ala1300= | |
| XM_011514301.1:c.3837C>T | XP_011512603.1:p.Ala1279= | |
| XM_011514302.1:c.3681C>T | XP_011512604.1:p.Ala1227= | |
| XM_011514299.2:c.4080C>T | XP_011512601.1:p.Ala1360= | |
| XM_011514300.2:c.3900C>T | XP_011512602.1:p.Ala1300= | |
| XM_011514302.2:c.3681C>T | XP_011512604.1:p.Ala1227= | |
| XM_017010250.1:c.4794C>T | XP_016865739.1:p.Ala1598= | |
| XM_017010251.2:c.3612C>T | XP_016865740.1:p.Ala1204= | |
| NM_080680.3:c.4794C>T MANE Select | NP_542411.2:p.Ala1598= | |
| NM_080681.3:c.4536C>T | NP_542412.2:p.Ala1512= | |
| NM_080679.3:c.4473C>T | NP_542410.2:p.Ala1491= |