Linked Data
ClinVar Variation Id:
2418333
ClinVar RCV Id:
RCV003121082
dbSNP Id:
rs141704244
ExAC:
2:71886163 G / C
gnomAD v2:
2-71886163-G-C
gnomAD v3:
2-71659033-G-C
gnomAD v4:
2-71659033-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71659033G>C , CM000664.2:g.71659033G>C | GRCh38 |
| NC_000002.11:g.71886163G>C , CM000664.1:g.71886163G>C | GRCh37 |
| NC_000002.10:g.71739671G>C | NCBI36 |
| NG_008694.1:g.210411G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698057.1:c.2325G>C | ENSP00000513536.1:p.Lys775Asn | |
| ENST00000698058.1:c.1542G>C | ENSP00000513537.1:p.Lys514Asn | |
| ENST00000698059.1:c.1650G>C | ENSP00000513538.1:p.Lys550Asn | |
| ENST00000258104.8:c.4794G>C MANE Plus Clinical | ENSP00000258104.3:p.Lys1598Asn | |
| ENST00000410020.8:c.4911G>C MANE Select | ENSP00000386881.3:p.Lys1637Asn | |
| ENST00000258104.7:c.4794G>C | ENSP00000258104.3:p.Lys1598Asn | |
| ENST00000394120.6:c.4797G>C | ENSP00000377678.2:p.Lys1599Asn | |
| ENST00000409366.5:c.4860G>C | ENSP00000386512.1:p.Lys1620Asn | |
| ENST00000409582.7:c.4908G>C | ENSP00000386547.3:p.Lys1636Asn | |
| ENST00000409651.5:c.4890G>C | ENSP00000386683.1:p.Lys1630Asn | |
| ENST00000409744.5:c.4818G>C | ENSP00000386285.1:p.Lys1606Asn | |
| ENST00000409762.5:c.4845G>C | ENSP00000387137.1:p.Lys1615Asn | |
| ENST00000410020.7:c.4911G>C | ENSP00000386881.3:p.Lys1637Asn | |
| ENST00000410041.1:c.4848G>C | ENSP00000386617.1:p.Lys1616Asn | |
| ENST00000413539.6:c.4887G>C | ENSP00000407046.2:p.Lys1629Asn | |
| ENST00000429174.6:c.4857G>C | ENSP00000398305.2:p.Lys1619Asn | |
| ENST00000479049.6:n.1679G>C | ||
| NM_001130455.1:c.4797G>C | NP_001123927.1:p.Lys1599Asn | |
| NM_001130976.1:c.4752G>C | NP_001124448.1:p.Lys1584Asn | |
| NM_001130977.1:c.4815G>C | NP_001124449.1:p.Lys1605Asn | |
| NM_001130978.1:c.4857G>C | NP_001124450.1:p.Lys1619Asn | |
| NM_001130979.1:c.4887G>C | NP_001124451.1:p.Lys1629Asn | |
| NM_001130980.1:c.4845G>C | NP_001124452.1:p.Lys1615Asn | |
| NM_001130981.1:c.4908G>C | NP_001124453.1:p.Lys1636Asn | |
| NM_001130982.1:c.4890G>C | NP_001124454.1:p.Lys1630Asn | |
| NM_001130983.1:c.4860G>C | NP_001124455.1:p.Lys1620Asn | |
| NM_001130984.1:c.4818G>C | NP_001124456.1:p.Lys1606Asn | |
| NM_001130985.1:c.4848G>C | NP_001124457.1:p.Lys1616Asn | |
| NM_001130986.1:c.4755G>C | NP_001124458.1:p.Lys1585Asn | |
| NM_001130987.1:c.4911G>C | NP_001124459.1:p.Lys1637Asn | |
| NM_003494.3:c.4794G>C | NP_003485.1:p.Lys1598Asn | |
| XM_005264584.3:c.4953G>C | XP_005264641.1:p.Lys1651Asn | |
| XM_005264585.3:c.4950G>C | XP_005264642.1:p.Lys1650Asn | |
| XM_005264584.4:c.4953G>C | XP_005264641.1:p.Lys1651Asn | |
| XM_005264585.5:c.4950G>C | XP_005264642.1:p.Lys1650Asn | |
| XR_001738969.1:n.5111G>C | ||
| NM_001130987.2:c.4911G>C MANE Select | NP_001124459.1:p.Lys1637Asn | |
| NM_001130455.2:c.4797G>C | NP_001123927.1:p.Lys1599Asn | |
| NM_001130976.2:c.4752G>C | NP_001124448.1:p.Lys1584Asn | |
| NM_001130977.2:c.4815G>C | NP_001124449.1:p.Lys1605Asn | |
| NM_001130978.2:c.4857G>C | NP_001124450.1:p.Lys1619Asn | |
| NM_001130979.2:c.4887G>C | NP_001124451.1:p.Lys1629Asn | |
| NM_001130980.2:c.4845G>C | NP_001124452.1:p.Lys1615Asn | |
| NM_001130981.2:c.4908G>C | NP_001124453.1:p.Lys1636Asn | |
| NM_001130982.2:c.4890G>C | NP_001124454.1:p.Lys1630Asn | |
| NM_001130983.2:c.4860G>C | NP_001124455.1:p.Lys1620Asn | |
| NM_001130984.2:c.4818G>C | NP_001124456.1:p.Lys1606Asn | |
| NM_001130985.2:c.4848G>C | NP_001124457.1:p.Lys1616Asn | |
| NM_001130986.2:c.4755G>C | NP_001124458.1:p.Lys1585Asn | |
| NM_003494.4:c.4794G>C MANE Plus Clinical | NP_003485.1:p.Lys1598Asn |