Linked Data
ClinVar Variation Id:
681537
ClinVar RCV Id:
RCV000841462
dbSNP Id:
rs749261447
ExAC:
6:33132671 T / G
gnomAD v2:
6-33132671-T-G
gnomAD v3:
6-33164894-T-G
gnomAD v4:
6-33164894-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33164894T>G , CM000668.2:g.33164894T>G | GRCh38 |
| NC_000006.11:g.33132671T>G , CM000668.1:g.33132671T>G | GRCh37 |
| NC_000006.10:g.33240649T>G | NCBI36 |
| NG_011589.1:g.32575A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683572.1:n.627A>C | ||
| ENST00000341947.7:c.4821A>C MANE Select | ENSP00000339915.2:p.Ala1607= | |
| ENST00000341947.6:c.4821A>C | ENSP00000339915.2:p.Ala1607= | |
| ENST00000361917.5:c.4500A>C | ENSP00000355123.1:p.Ala1500= | |
| ENST00000374708.8:c.4563A>C | ENSP00000363840.4:p.Ala1521= | |
| ENST00000477772.1:n.611A>C | ||
| NM_080679.2:c.4500A>C | NP_542410.2:p.Ala1500= | |
| NM_080680.2:c.4821A>C | NP_542411.2:p.Ala1607= | |
| NM_080681.2:c.4563A>C | NP_542412.2:p.Ala1521= | |
| XM_011514298.1:c.3975A>C | XP_011512600.1:p.Ala1325= | |
| XM_011514299.1:c.4107A>C | XP_011512601.1:p.Ala1369= | |
| XM_011514300.1:c.3927A>C | XP_011512602.1:p.Ala1309= | |
| XM_011514301.1:c.3864A>C | XP_011512603.1:p.Ala1288= | |
| XM_011514302.1:c.3708A>C | XP_011512604.1:p.Ala1236= | |
| XM_011514299.2:c.4107A>C | XP_011512601.1:p.Ala1369= | |
| XM_011514300.2:c.3927A>C | XP_011512602.1:p.Ala1309= | |
| XM_011514302.2:c.3708A>C | XP_011512604.1:p.Ala1236= | |
| XM_017010250.1:c.4821A>C | XP_016865739.1:p.Ala1607= | |
| XM_017010251.2:c.3639A>C | XP_016865740.1:p.Ala1213= | |
| NM_080680.3:c.4821A>C MANE Select | NP_542411.2:p.Ala1607= | |
| NM_080681.3:c.4563A>C | NP_542412.2:p.Ala1521= | |
| NM_080679.3:c.4500A>C | NP_542410.2:p.Ala1500= |