Linked Data
dbSNP Id:
rs748143615
ExAC:
10:105921774 A / G
gnomAD v2:
10-105921774-A-G
gnomAD v4:
10-104162016-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.104162016A>G , CM000672.2:g.104162016A>G | GRCh38 |
| NC_000010.10:g.105921774A>G , CM000672.1:g.105921774A>G | GRCh37 |
| NC_000010.9:g.105911764A>G | NCBI36 |
| NG_051581.1:g.75362T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357060.8:c.3359T>C MANE Select | ENSP00000349568.3:p.Leu1120Pro | |
| ENST00000357060.7:c.3359T>C | ENSP00000349568.3:p.Leu1120Pro | |
| ENST00000434629.5:c.1441T>C | ||
| NM_025145.5:c.3359T>C | NP_079421.5:p.Leu1120Pro | |
| XM_005270171.1:c.3362T>C | XP_005270228.1:p.Leu1121Pro | |
| XM_005270172.2:c.3362T>C | XP_005270229.1:p.Leu1121Pro | |
| XM_011540196.1:c.3476T>C | XP_011538498.1:p.Leu1159Pro | |
| XM_011540197.1:c.3476T>C | XP_011538499.1:p.Leu1159Pro | |
| XM_011540198.1:c.3359T>C | XP_011538500.1:p.Leu1120Pro | |
| XM_011540199.1:c.3359T>C | XP_011538501.1:p.Leu1120Pro | |
| XM_011540200.1:c.3476T>C | XP_011538502.1:p.Leu1159Pro | |
| XM_011540201.1:c.3476T>C | XP_011538503.1:p.Leu1159Pro | |
| XM_011540202.1:c.2705T>C | XP_011538504.1:p.Leu902Pro | |
| XM_011540203.1:c.1259T>C | XP_011538505.1:p.Leu420Pro | |
| NM_025145.6:c.3359T>C | NP_079421.5:p.Leu1120Pro | |
| XM_005270171.2:c.3362T>C | XP_005270228.1:p.Leu1121Pro | |
| XM_005270172.3:c.3362T>C | XP_005270229.1:p.Leu1121Pro | |
| XM_011540196.2:c.3476T>C | XP_011538498.1:p.Leu1159Pro | |
| XM_011540197.2:c.3476T>C | XP_011538499.1:p.Leu1159Pro | |
| XM_011540198.2:c.3359T>C | XP_011538500.1:p.Leu1120Pro | |
| XM_011540199.2:c.3359T>C | XP_011538501.1:p.Leu1120Pro | |
| XM_011540200.2:c.3476T>C | XP_011538502.1:p.Leu1159Pro | |
| XM_011540201.2:c.3476T>C | XP_011538503.1:p.Leu1159Pro | |
| XM_011540202.2:c.2705T>C | XP_011538504.1:p.Leu902Pro | |
| XM_017016681.1:c.3473T>C | XP_016872170.1:p.Leu1158Pro | |
| XM_017016682.1:c.3128T>C | XP_016872171.1:p.Leu1043Pro | |
| XM_024448177.1:c.1862T>C | XP_024303945.1:p.Leu621Pro | |
| XM_024448178.1:c.1259T>C | XP_024303946.1:p.Leu420Pro | |
| XR_002957015.1:n.3245T>C | ||
| NM_025145.7:c.3359T>C MANE Select | NP_079421.5:p.Leu1120Pro |