Linked Data
ClinVar Variation Id:
197958
dbSNP Id:
rs794727759
gnomAD v3:
6-51791265-A-T
gnomAD v4:
6-51791265-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.51791265A>T , CM000668.2:g.51791265A>T | GRCh38 |
| NC_000006.11:g.51656063A>T , CM000668.1:g.51656063A>T | GRCh37 |
| NC_000006.10:g.51764022A>T | NCBI36 |
| NG_008753.1:g.301361T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371117.8:c.8411T>A MANE Select | ENSP00000360158.3:p.Met2804Lys | |
| ENST00000340994.4:c.8411T>A | ENSP00000341097.4:p.Met2804Lys | |
| ENST00000371117.7:c.8411T>A | ENSP00000360158.3:p.Met2804Lys | |
| NM_138694.3:c.8411T>A | NP_619639.3:p.Met2804Lys | |
| NM_170724.2:c.8411T>A | NP_733842.2:p.Met2804Lys | |
| XM_011514679.1:c.8411T>A | XP_011512981.1:p.Met2804Lys | |
| XM_011514680.1:c.8411T>A | XP_011512982.1:p.Met2804Lys | |
| XM_011514681.1:c.8282T>A | XP_011512983.1:p.Met2761Lys | |
| XM_011514682.1:c.8303-15344T>A | XP_011512984.1:n.8303-15344T>A | |
| XM_011514683.1:c.7769T>A | XP_011512985.1:p.Met2590Lys | |
| XM_011514684.1:c.7700T>A | XP_011512986.1:p.Met2567Lys | |
| XM_011514685.1:c.8411T>A | XP_011512987.1:p.Met2804Lys | |
| XM_011514686.1:c.8411T>A | XP_011512988.1:p.Met2804Lys | |
| XM_011514687.1:c.8411T>A | XP_011512989.1:p.Met2804Lys | |
| XM_011514688.1:c.8411T>A | XP_011512990.1:p.Met2804Lys | |
| XM_011514690.1:c.2486T>A | XP_011512992.1:p.Met829Lys | |
| XM_011514691.1:c.2486T>A | XP_011512993.1:p.Met829Lys | |
| XM_011514680.3:c.8411T>A | XP_011512982.1:p.Met2804Lys | |
| XM_011514682.3:c.8303-15344T>A | XP_011512984.1:n.8303-15344T>A | |
| XM_011514683.3:c.7769T>A | XP_011512985.1:p.Met2590Lys | |
| XM_011514684.3:c.7700T>A | XP_011512986.1:p.Met2567Lys | |
| XM_011514686.2:c.8411T>A | XP_011512988.1:p.Met2804Lys | |
| XM_011514688.2:c.8411T>A | XP_011512990.1:p.Met2804Lys | |
| XM_011514690.3:c.2486T>A | XP_011512992.1:p.Met829Lys | |
| XM_011514691.3:c.2486T>A | XP_011512993.1:p.Met829Lys | |
| XM_017010944.2:c.8411T>A | XP_016866433.1:p.Met2804Lys | |
| XM_017010945.2:c.8336T>A | XP_016866434.1:p.Met2779Lys | |
| XM_017010946.2:c.8216T>A | XP_016866435.1:p.Met2739Lys | |
| XM_017010947.2:c.8147T>A | XP_016866436.1:p.Met2716Lys | |
| XM_017010948.2:c.7700T>A | XP_016866437.1:p.Met2567Lys | |
| XM_017010949.2:c.6551T>A | XP_016866438.1:p.Met2184Lys | |
| XM_017010950.1:c.8411T>A | XP_016866439.1:p.Met2804Lys | |
| XM_017010951.1:c.8411T>A | XP_016866440.1:p.Met2804Lys | |
| XR_001743469.1:n.8687T>A | ||
| NM_138694.4:c.8411T>A MANE Select | NP_619639.3:p.Met2804Lys | |
| NM_170724.3:c.8411T>A | NP_733842.2:p.Met2804Lys |