Linked Data
dbSNP Id:
rs778711731
ExAC:
6:51524609 C / G
gnomAD v2:
6-51524609-C-G
gnomAD v4:
6-51659811-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.51659811C>G , CM000668.2:g.51659811C>G | GRCh38 |
| NC_000006.11:g.51524609C>G , CM000668.1:g.51524609C>G | GRCh37 |
| NC_000006.10:g.51632568C>G | NCBI36 |
| NG_008753.1:g.432815G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371117.8:c.10315G>C MANE Select | ENSP00000360158.3:p.Asp3439His | |
| ENST00000371117.7:c.10315G>C | ENSP00000360158.3:p.Asp3439His | |
| NM_138694.3:c.10315G>C | NP_619639.3:p.Asp3439His | |
| XM_011514679.1:c.10315G>C | XP_011512981.1:p.Asp3439His | |
| XM_011514680.1:c.10315G>C | XP_011512982.1:p.Asp3439His | |
| XM_011514681.1:c.10186G>C | XP_011512983.1:p.Asp3396His | |
| XM_011514682.1:c.10177G>C | XP_011512984.1:p.Asp3393His | |
| XM_011514683.1:c.9673G>C | XP_011512985.1:p.Asp3225His | |
| XM_011514684.1:c.9604G>C | XP_011512986.1:p.Asp3202His | |
| XM_011514687.1:c.10157-10591G>C | XP_011512989.1:n.10157-10591G>C | |
| XM_011514690.1:c.4390G>C | XP_011512992.1:p.Asp1464His | |
| XM_011514691.1:c.4390G>C | XP_011512993.1:p.Asp1464His | |
| XR_926870.1:n.535+7438C>G | ||
| XR_926871.1:n.403+7438C>G | ||
| XR_926872.1:n.535+7438C>G | ||
| XM_011514680.3:c.10315G>C | XP_011512982.1:p.Asp3439His | |
| XM_011514682.3:c.10177G>C | XP_011512984.1:p.Asp3393His | |
| XM_011514683.3:c.9673G>C | XP_011512985.1:p.Asp3225His | |
| XM_011514684.3:c.9604G>C | XP_011512986.1:p.Asp3202His | |
| XM_011514690.3:c.4390G>C | XP_011512992.1:p.Asp1464His | |
| XM_011514691.3:c.4390G>C | XP_011512993.1:p.Asp1464His | |
| XM_017010944.2:c.10315G>C | XP_016866433.1:p.Asp3439His | |
| XM_017010945.2:c.10240G>C | XP_016866434.1:p.Asp3414His | |
| XM_017010946.2:c.10120G>C | XP_016866435.1:p.Asp3374His | |
| XM_017010947.2:c.10051G>C | XP_016866436.1:p.Asp3351His | |
| XM_017010948.2:c.9604G>C | XP_016866437.1:p.Asp3202His | |
| XM_017010949.2:c.8455G>C | XP_016866438.1:p.Asp2819His | |
| XR_001743469.1:n.10591G>C | ||
| XR_001744157.1:n.3145+7438C>G | ||
| XR_926870.2:n.3145+7438C>G | ||
| XR_926871.2:n.3013+7438C>G | ||
| XR_926872.2:n.3145+7438C>G | ||
| NM_138694.4:c.10315G>C MANE Select | NP_619639.3:p.Asp3439His |