Linked Data
dbSNP Id:
rs370834280
ExAC:
11:70319282 G / A
gnomAD v2:
11-70319282-G-A
gnomAD v3:
11-70473177-G-A
gnomAD v4:
11-70473177-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.70473177G>A , CM000673.2:g.70473177G>A | GRCh38 |
| NC_000011.9:g.70319282G>A , CM000673.1:g.70319282G>A | GRCh37 |
| NC_000011.8:g.69996930G>A | NCBI36 |
| NG_042866.1:g.656620C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338508.9:c.3475C>T | ENSP00000345193.7:p.Pro1159Ser | |
| ENST00000412252.6:c.1020C>T | ENSP00000414876.2:n.1020C>T | |
| ENST00000601538.6:c.5242C>T MANE Select | ENSP00000469689.2:p.Pro1748Ser | |
| ENST00000654939.1:c.2751C>T | ||
| ENST00000656230.1:c.4105C>T | ENSP00000499561.1:p.Pro1369Ser | |
| ENST00000659264.1:c.3532C>T | ENSP00000499270.1:p.Pro1178Ser | |
| ENST00000338508.8:c.3478C>T | ENSP00000345193.6:p.Pro1160Ser | |
| ENST00000357171.7:c.*246C>T | ENSP00000349694.4:n.*246C>T | |
| ENST00000409161.5:c.3454C>T | ENSP00000386491.1:p.Pro1152Ser | |
| ENST00000412252.5:c.1018C>T | ||
| ENST00000423696.6:c.4105C>T | ENSP00000394536.2:p.Pro1369Ser | |
| ENST00000424924.5:c.3079C>T | ENSP00000402944.1:p.Pro1027Ser | |
| ENST00000449833.6:c.3478C>T | ENSP00000399423.3:p.Pro1160Ser | |
| ENST00000601538.5:c.5242C>T | ENSP00000469689.2:p.Pro1748Ser | |
| ENST00000606715.3:n.1994C>T | ||
| NM_012309.4:c.5242C>T | NP_036441.2:p.Pro1748Ser | |
| NM_133266.4:c.3478C>T | NP_573573.2:p.Pro1160Ser | |
| NR_110766.1:n.1096C>T | ||
| XM_005277930.2:c.5242C>T | XP_005277987.1:p.Pro1748Ser | |
| XM_005277932.2:c.4105C>T | XP_005277989.1:p.Pro1369Ser | |
| XM_006718478.2:c.5212C>T | XP_006718541.1:p.Pro1738Ser | |
| XM_011544854.1:c.5254C>T | XP_011543156.1:p.Pro1752Ser | |
| XM_011544855.1:c.5233C>T | XP_011543157.1:p.Pro1745Ser | |
| XM_011544856.1:c.5227C>T | XP_011543158.1:p.Pro1743Ser | |
| XM_011544857.1:c.5206C>T | XP_011543159.1:p.Pro1736Ser | |
| XM_011544859.1:c.4117C>T | XP_011543161.1:p.Pro1373Ser | |
| XM_005277932.3:c.4105C>T | XP_005277989.1:p.Pro1369Ser | |
| XM_017017387.1:c.5242C>T | XP_016872876.1:p.Pro1748Ser | |
| XM_017017388.1:c.5242C>T | XP_016872877.1:p.Pro1748Ser | |
| XM_017017389.1:c.5215C>T | XP_016872878.1:p.Pro1739Ser | |
| XM_017017390.1:c.3532C>T | XP_016872879.1:p.Pro1178Ser | |
| NM_133266.5:c.3478C>T | NP_573573.2:p.Pro1160Ser | |
| NR_110766.2:n.1097C>T | ||
| NM_001379226.1:c.4105C>T | NP_001366155.1:p.Pro1369Ser | |
| NM_012309.5:c.5242C>T MANE Select | NP_036441.2:p.Pro1748Ser |