Linked Data
ClinVar Variation Id:
370381
ClinVar RCV Id:
RCV000411250
dbSNP Id:
rs1057516445
gnomAD v4:
6-51747933-G-T
PubMed:
PMID:16133180
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.51747933G>T , CM000668.2:g.51747933G>T | GRCh38 |
| NC_000006.11:g.51612731G>T , CM000668.1:g.51612731G>T | GRCh37 |
| NC_000006.10:g.51720690G>T | NCBI36 |
| NG_008753.1:g.344693C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371117.8:c.9683C>A MANE Select | ENSP00000360158.3:p.Ser3228Ter | |
| ENST00000340994.4:c.9683C>A | ENSP00000341097.4:p.Ser3228Ter | |
| ENST00000371117.7:c.9683C>A | ENSP00000360158.3:p.Ser3228Ter | |
| NM_138694.3:c.9683C>A | NP_619639.3:p.Ser3228Ter | |
| NM_170724.2:c.9683C>A | NP_733842.2:p.Ser3228Ter | |
| XM_011514679.1:c.9683C>A | XP_011512981.1:p.Ser3228Ter | |
| XM_011514680.1:c.9683C>A | XP_011512982.1:p.Ser3228Ter | |
| XM_011514681.1:c.9554C>A | XP_011512983.1:p.Ser3185Ter | |
| XM_011514682.1:c.9545C>A | XP_011512984.1:p.Ser3182Ter | |
| XM_011514683.1:c.9041C>A | XP_011512985.1:p.Ser3014Ter | |
| XM_011514684.1:c.8972C>A | XP_011512986.1:p.Ser2991Ter | |
| XM_011514685.1:c.9683C>A | XP_011512987.1:p.Ser3228Ter | |
| XM_011514686.1:c.9683C>A | XP_011512988.1:p.Ser3228Ter | |
| XM_011514687.1:c.9683C>A | XP_011512989.1:p.Ser3228Ter | |
| XM_011514688.1:c.9683C>A | XP_011512990.1:p.Ser3228Ter | |
| XM_011514690.1:c.3758C>A | XP_011512992.1:p.Ser1253Ter | |
| XM_011514691.1:c.3758C>A | XP_011512993.1:p.Ser1253Ter | |
| XM_011514680.3:c.9683C>A | XP_011512982.1:p.Ser3228Ter | |
| XM_011514682.3:c.9545C>A | XP_011512984.1:p.Ser3182Ter | |
| XM_011514683.3:c.9041C>A | XP_011512985.1:p.Ser3014Ter | |
| XM_011514684.3:c.8972C>A | XP_011512986.1:p.Ser2991Ter | |
| XM_011514686.2:c.9683C>A | XP_011512988.1:p.Ser3228Ter | |
| XM_011514688.2:c.9683C>A | XP_011512990.1:p.Ser3228Ter | |
| XM_011514690.3:c.3758C>A | XP_011512992.1:p.Ser1253Ter | |
| XM_011514691.3:c.3758C>A | XP_011512993.1:p.Ser1253Ter | |
| XM_017010944.2:c.9683C>A | XP_016866433.1:p.Ser3228Ter | |
| XM_017010945.2:c.9608C>A | XP_016866434.1:p.Ser3203Ter | |
| XM_017010946.2:c.9488C>A | XP_016866435.1:p.Ser3163Ter | |
| XM_017010947.2:c.9419C>A | XP_016866436.1:p.Ser3140Ter | |
| XM_017010948.2:c.8972C>A | XP_016866437.1:p.Ser2991Ter | |
| XM_017010949.2:c.7823C>A | XP_016866438.1:p.Ser2608Ter | |
| XM_017010950.1:c.9683C>A | XP_016866439.1:p.Ser3228Ter | |
| XR_001743469.1:n.9959C>A | ||
| NM_138694.4:c.9683C>A MANE Select | NP_619639.3:p.Ser3228Ter | |
| NM_170724.3:c.9683C>A | NP_733842.2:p.Ser3228Ter |