Linked Data
ClinVar Variation Id:
2307716
ClinVar RCV Id:
RCV002900788
dbSNP Id:
rs759044121
ExAC:
5:180030283 T / C
gnomAD v2:
5-180030283-T-C
gnomAD v3:
5-180603283-T-C
gnomAD v4:
5-180603283-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.180603283T>C , CM000667.2:g.180603283T>C | GRCh38 |
| NC_000005.9:g.180030283T>C , CM000667.1:g.180030283T>C | GRCh37 |
| NC_000005.8:g.179962889T>C | NCBI36 |
| NG_011536.1:g.51342A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261937.11:c.4001A>G MANE Select | ENSP00000261937.6:p.Asn1334Ser | |
| ENST00000261937.10:c.4001A>G | ENSP00000261937.6:p.Asn1334Ser | |
| ENST00000502603.5:n.701A>G | ||
| NM_182925.4:c.4001A>G | NP_891555.2:p.Asn1334Ser | |
| XM_011534477.1:c.4250A>G | XP_011532779.1:p.Asn1417Ser | |
| XM_011534478.1:c.4232A>G | XP_011532780.1:p.Asn1411Ser | |
| XM_011534482.1:c.4019A>G | XP_011532784.1:p.Asn1340Ser | |
| XM_011534483.1:c.3941A>G | XP_011532785.1:p.Asn1314Ser | |
| XM_011534484.1:c.3542A>G | XP_011532786.1:p.Asn1181Ser | |
| XR_941095.1:n.4287A>G | ||
| XM_011534478.3:c.4232A>G | XP_011532780.1:p.Asn1411Ser | |
| XM_011534484.2:c.3542A>G | XP_011532786.1:p.Asn1181Ser | |
| XM_017009263.1:c.*147A>G | XP_016864752.1:n.*147A>G | |
| XM_017009268.1:c.3923A>G | XP_016864757.1:p.Asn1308Ser | |
| XR_001742050.2:n.4491A>G | ||
| NM_182925.5:c.4001A>G MANE Select | NP_891555.2:p.Asn1334Ser |