Linked Data
dbSNP Id:
rs782440580
ExAC:
11:70319359 A / G
gnomAD v2:
11-70319359-A-G
gnomAD v3:
11-70473254-A-G
gnomAD v4:
11-70473254-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.70473254A>G , CM000673.2:g.70473254A>G | GRCh38 |
| NC_000011.9:g.70319359A>G , CM000673.1:g.70319359A>G | GRCh37 |
| NC_000011.8:g.69997007A>G | NCBI36 |
| NG_042866.1:g.656543T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338508.9:c.3398T>C | ENSP00000345193.7:p.Leu1133Pro | |
| ENST00000412252.6:c.943T>C | ENSP00000414876.2:n.943T>C | |
| ENST00000601538.6:c.5165T>C MANE Select | ENSP00000469689.2:p.Leu1722Pro | |
| ENST00000654939.1:c.2674T>C | ||
| ENST00000656230.1:c.4028T>C | ENSP00000499561.1:p.Leu1343Pro | |
| ENST00000659264.1:c.3455T>C | ENSP00000499270.1:p.Leu1152Pro | |
| ENST00000338508.8:c.3401T>C | ENSP00000345193.6:p.Leu1134Pro | |
| ENST00000357171.7:c.*169T>C | ENSP00000349694.4:n.*169T>C | |
| ENST00000409161.5:c.3377T>C | ENSP00000386491.1:p.Leu1126Pro | |
| ENST00000412252.5:c.941T>C | ||
| ENST00000423696.6:c.4028T>C | ENSP00000394536.2:p.Leu1343Pro | |
| ENST00000424924.5:c.3002T>C | ENSP00000402944.1:p.Leu1001Pro | |
| ENST00000449833.6:c.3401T>C | ENSP00000399423.3:p.Leu1134Pro | |
| ENST00000601538.5:c.5165T>C | ENSP00000469689.2:p.Leu1722Pro | |
| ENST00000606715.3:n.1917T>C | ||
| NM_012309.4:c.5165T>C | NP_036441.2:p.Leu1722Pro | |
| NM_133266.4:c.3401T>C | NP_573573.2:p.Leu1134Pro | |
| NR_110766.1:n.1019T>C | ||
| XM_005277930.2:c.5165T>C | XP_005277987.1:p.Leu1722Pro | |
| XM_005277932.2:c.4028T>C | XP_005277989.1:p.Leu1343Pro | |
| XM_006718478.2:c.5135T>C | XP_006718541.1:p.Leu1712Pro | |
| XM_011544854.1:c.5177T>C | XP_011543156.1:p.Leu1726Pro | |
| XM_011544855.1:c.5156T>C | XP_011543157.1:p.Leu1719Pro | |
| XM_011544856.1:c.5150T>C | XP_011543158.1:p.Leu1717Pro | |
| XM_011544857.1:c.5129T>C | XP_011543159.1:p.Leu1710Pro | |
| XM_011544859.1:c.4040T>C | XP_011543161.1:p.Leu1347Pro | |
| XM_005277932.3:c.4028T>C | XP_005277989.1:p.Leu1343Pro | |
| XM_017017387.1:c.5165T>C | XP_016872876.1:p.Leu1722Pro | |
| XM_017017388.1:c.5165T>C | XP_016872877.1:p.Leu1722Pro | |
| XM_017017389.1:c.5138T>C | XP_016872878.1:p.Leu1713Pro | |
| XM_017017390.1:c.3455T>C | XP_016872879.1:p.Leu1152Pro | |
| NM_133266.5:c.3401T>C | NP_573573.2:p.Leu1134Pro | |
| NR_110766.2:n.1020T>C | ||
| NM_001379226.1:c.4028T>C | NP_001366155.1:p.Leu1343Pro | |
| NM_012309.5:c.5165T>C MANE Select | NP_036441.2:p.Leu1722Pro |